Recessive Mutations inTSPAN12Cause Retinal Dysplasia and Severe Familial Exudative Vitreoretinopathy (FEVR)-Reference-Cited by-同舟云学术

Recessive Mutations inTSPAN12Cause Retinal Dysplasia and Severe Familial Exudative Vitreoretinopathy (FEVR)

Published:2012-05-14 Issue:6 Volume:53 Page:2873
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Poulter James A.¹,Davidson Alice E.¹,Ali Manir¹,Gilmour David F.¹,Parry David A.¹,Mintz-Hittner Helen A.¹,Carr Ian M.¹,Bottomley Helen M.¹,Long Vernon W.¹,Downey Louise M.¹,Sergouniotis Panagiotis I.¹,Wright Genevieve A.¹,MacLaren Robert E.¹,Moore Anthony T.¹,Webster Andrew R.¹,Inglehearn Chris F.¹,Toomes Carmel¹

Affiliation:

1. From the 1Leeds Institute of Molecular Medicine, St. James's University Hospital, Leeds, United Kingdom, 3Institute of Ophthalmology, University College London, London, United Kingdom, 4Department of Ophthalmology and Visual Science, University of Texas H

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

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2. A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy;Clinical Genetics;2022-12-13

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5. A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR;Molecular Genetics & Genomic Medicine;2022-04-13